Browsing by Author Bruno, Damien

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Issue DateTitleAuthor(s)Citation
2009Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15Nicholson, Garth; Wei, Morgan; Zhu, Danqing; Bruno, Damien; Delatycki, Martin; Ganesamoorthy, Devika; Gardner, R. J. McKinlay; Schoumans, Jacqueline; Slater, Howard; Storey, Elsdon; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: ANZAC Research Institute; Concord Clinical School: MedicineDevelopment of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15, Clinical Chemistry (Washington, DC): international journal of molecular diagnostics and laboratory medicine, vol.55, 7,pp 1415-1418
2013Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexesChristodoulou, John; Boneh, A.; Bruno, Damien; DeGennaro, Christine; et al, Various; Friemel, Martin; Kirk, Edwin; Lim, Sze Chern; Marum, Justine; Riley, Lisa G.; Springer, Michael; Tucker, Elena; Children's Hospital Westmead: Paediatrics & Child HealthMutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes, Human Molecular Genetics, vol.22, 22, 2013,pp 4460-4473